Zobrazeno 1 - 10
of 238
pro vyhledávání: '"HFE mutations"'
Autor:
Laura Infanti, Gerda Leitner, Morten Moe, Vildana Pehlic, Marco Cattaneo, Pascal Benkert, Andreas Holbro, Jakob Passweg, Nina Worel, Andreas Buser
Publikováno v:
Frontiers in Medicine, Vol 11 (2024)
BackgroundElevated serum ferritin with/without HFE variants in asymptomatic persons leads frequently to referral for blood donation. Hemochromatosis (p.C282Y/p.C282Y) only requires treatment. We evaluated safety and feasibility of iron removal in hea
Externí odkaz:
https://doaj.org/article/4ce76c5baf2f44b18956affd947175b9
Akademický článek
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Autor:
Manal Michel Wilson, Hanan Al-Wakeel, Fadwa Said, Mona El-Ghamrawy, Mary Assaad, Amal El-Beshlawy
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 16, Iss 2, Pp 129-133 (2015)
Background: HFE gene mutations have been shown to be responsible for hereditary hemochromatosis. Their effect on iron load in β-thalassemia patients and carriers remains controversial. Objectives: We aimed to determine the prevalence of HFE gene mut
Externí odkaz:
https://doaj.org/article/ac4cb00064414e3e9fa56a15d7ee05d7
Autor:
Paulo Lisboa Bittencourt, Maria Lúcia Carnevale Marin, Cláudia Alves Couto, Eduardo Luiz Rachid Cançado, Flair José Carrilho, Anna Carla Goldberg
Publikováno v:
Clinics, Vol 64, Iss 9, Pp 837-841 (2009)
BACKGROUND: Approximately one-half of Brazilian patients with hereditary hemochromatosis (HH) are neither homozygous for the C282Y mutation nor compound heterozygous for the H63D and C282Y mutations that are associated with HH in Caucasians. Other mu
Externí odkaz:
https://doaj.org/article/bc4726f2807d4a07bb8e7cb6e94c57d1
Autor:
, editor
Publikováno v:
Best of Five MCQs for the MRCP Part 1 Volume 2, 2017.
Externí odkaz:
https://doi.org/10.1093/oso/9780198747161.003.0006
Autor:
P.L. Bittencourt, S.A. Palácios, C.A. Couto, E.L.R. Cançado, F.J. Carrilho, A.A. Laudanna, J. Kalil, L.C.C. Gayotto, A.C. Goldberg
Publikováno v:
Brazilian Journal of Medical and Biological Research, Vol 35, Iss 3, Pp 329-335 (2002)
The hemochromatosis gene, HFE, is located on chromosome 6 in close proximity to the HLA-A locus. Most Caucasian patients with hereditary hemochromatosis (HH) are homozygous for HLA-A3 and for the C282Y mutation of the HFE gene, while a minority are c
Externí odkaz:
https://doaj.org/article/5958aaa850ed46e8a17815b245ce616b
Akademický článek
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Publikováno v:
Mutation Research/Reviews in Mutation Research. 779:58-67
Individual variations in erythrocyte parameters are influenced by factors like sex, age, diet and season. Genetic variations have also been associated with erythrocyte parameters. The aim of this systematic review is to provide an overview of associa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dris___01181::8dac639c321e0e8f9d00653ae319ae66
https://research.tilburguniversity.edu/en/publications/31e54961-26a7-4c07-a73e-8e9e6ececd3b
https://research.tilburguniversity.edu/en/publications/31e54961-26a7-4c07-a73e-8e9e6ececd3b
Autor:
C. Ellen van der Schoot, Katja van den Hurk, Joost G. Daams, Elisabeth M.J. Huis In 'T Veld, Tiffany C. Timmer, Barbera Veldhuisen, Wim L.A.M. de Kort, Michael W.T. Tanck
Publikováno v:
Timmer, T, Tanck, M W T, Huis in ’t Veld, E M J, Veldhuisen, B, Daams, J G, de Kort, W L A M, van der Schoot, C E & van den Hurk, K 2019, ' Associations between single nucleotide polymorphisms and erythrocyte parameters in humans : A systematic literature review ', Mutation Research-Reviews in Mutation Research, vol. 779, pp. 58-67 . https://doi.org/10.1016/j.mrrev.2019.01.002
Individual variations in erythrocyte parameters are influenced by factors like sex, age, diet and season. Genetic variations have also been associated with erythrocyte parameters. The aim of this systematic review is to provide an overview of associa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44984f69aedf4645458acff5b2af2728
https://research.vumc.nl/en/publications/2b3bace2-9208-4e30-9fc0-99cc9e836d8a
https://research.vumc.nl/en/publications/2b3bace2-9208-4e30-9fc0-99cc9e836d8a
Autor:
Mary Frances McMullin, Maria Luigia Randi, Irene Bertozzi, Elisabetta Cosi, Nuala Robson, Giacomo Biagetti, Mark Catherwood
Publikováno v:
Biagetti, G, Catherwood, M, Robson, N, Bertozzi, I, Cosi, E, McMullin, M F & Randi, M L 2017, ' HFE mutations in idiopathic erythrocytosis ', British Journal of Haematology . https://doi.org/10.1111/bjh.14555
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af9eca32d23dc3a2378cc808ee2b5ed2
https://pubmed.ncbi.nlm.nih.gov/30407617
https://pubmed.ncbi.nlm.nih.gov/30407617